Mitchell Douglas R, Mitchell Joyce A
Department of Health Management and Informatics, University of Missouri, 324 Clark Hall, Columbia, MO 65211, USA.
J Biomed Inform. 2007 Feb;40(1):47-54. doi: 10.1016/j.jbi.2006.02.012. Epub 2006 Mar 15.
Clinical gene sequencing is growing in importance and cost-effectiveness. In the past two years, the number of genes associated with disease has grown by roughly 25%. Knowledge of genetic variations will soon guide drug selection and dosages, predict risks from toxin exposures, and inform nutritional needs. Despite the significance of sequencing, methods for reporting results are problematic. Frequent use of paper and infrequent use of naming standards impede data exchange and make incorporation into the electronic medical record difficult. Reports often describe only variations found, rather than all data (all patient bases sequenced). Also, reports frequently do not describe reference data used to define variations. These practices create risks for loss of both data and information. Standardized electronic reporting of all data (all bases sequenced and all reference data) and electronic record systems capable of storing these results would both prevent data loss and simplify the preservation of information those data provide.
临床基因测序的重要性和成本效益正在不断提高。在过去两年中，与疾病相关的基因数量增长了约25%。基因变异知识很快将指导药物选择和剂量、预测毒素暴露风险并告知营养需求。尽管测序很重要，但报告结果的方法存在问题。纸质报告的频繁使用和命名标准的不常使用阻碍了数据交换，并使得将其纳入电子病历变得困难。报告通常只描述发现的变异，而不是所有数据（所有测序的患者碱基）。此外，报告经常不描述用于定义变异的参考数据。这些做法会造成数据和信息丢失的风险。对所有数据（所有测序碱基和所有参考数据）进行标准化电子报告以及能够存储这些结果的电子记录系统，既能防止数据丢失，又能简化这些数据所提供信息的保存。
